Canonical Allele Identifier: CA8064425

Gene: AMFR

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56389242C>G , CM000678.2:g.56389242C>G	GRCh38
NC_000016.9:g.56423154C>G , CM000678.1:g.56423154C>G	GRCh37
NC_000016.8:g.54980655C>G	NCBI36
NG_047034.1:g.41297G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001144.6:c.1219G>C MANE Select	NP_001135.3:p.Ala407Pro
ENST00000290649.10:c.1219G>C MANE Select	ENSP00000290649.5:p.Ala407Pro
NM_001144.5:c.1219G>C	NP_001135.3:p.Ala407Pro
NM_001323511.1:c.934G>C	NP_001310440.1:p.Ala312Pro
NM_001323511.2:c.934G>C	NP_001310440.1:p.Ala312Pro
NM_001323512.1:c.1219G>C	NP_001310441.1:p.Ala407Pro
NM_001323512.2:c.1219G>C	NP_001310441.1:p.Ala407Pro
ENST00000290649.9:c.1219G>C	ENSP00000290649.5:p.Ala407Pro
ENST00000492830.5:c.245-3220G>C	ENSP00000473636.1:n.245-3220G>C
ENST00000567738.1:c.364G>C	ENSP00000456288.1:p.Ala122Pro
ENST00000568762.1:n.44-3220G>C
XM_005255889.2:c.934G>C	XP_005255946.1:p.Ala312Pro
XM_005255890.2:c.934G>C	XP_005255947.1:p.Ala312Pro
XM_005255890.4:c.934G>C	XP_005255947.1:p.Ala312Pro